rs397507327
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs397507327(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338598 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507327 |
dbSNP (classic) | rs397507327 |
ClinGen | rs397507327 |
ebi | rs397507327 |
HLI | rs397507327 |
Exac | rs397507327 |
Gnomad | rs397507327 |
Varsome | rs397507327 |
LitVar | rs397507327 |
Map | rs397507327 |
PheGenI | rs397507327 |
Biobank | rs397507327 |
1000 genomes | rs397507327 |
hgdp | rs397507327 |
ensembl | rs397507327 |
geneview | rs397507327 |
scholar | rs397507327 |
rs397507327 | |
pharmgkb | rs397507327 |
gwascentral | rs397507327 |
openSNP | rs397507327 |
23andMe | rs397507327 |
SNPshot | rs397507327 |
SNPdbe | rs397507327 |
MSV3d | rs397507327 |
GWAS Ctlg | rs397507327 |
Max Magnitude | 6 |
aka c.4243G>T (p.Glu1415Ter and E1415X); but note also presence of c.4243G>A (p.Glu1415Lys and E1415K)
ClinVar | |
---|---|
Risk | rs397507327(A;A) rs397507327(T;T) |
Alt | rs397507327(A;A) rs397507327(T;T) |
Reference | Rs397507327(G;G) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32912735G>T |
CLNSRC | ClinVar |
CLNACC | RCV000031471.5, RCV000044376.2, RCV000219707.1, |